From the Guidelines
Albinism is a group of rare genetic disorders characterized by a lack of melanin production, resulting in reduced or absent pigmentation in the skin, hair, and eyes. This condition occurs due to mutations in genes involved in melanin production, with several types existing based on the specific genetic mutation 1. People with albinism typically have very pale skin, white or light-colored hair, and light-colored eyes. Management focuses on protecting the skin and eyes from sun damage, as individuals with albinism are highly susceptible to sunburn and have an increased risk of skin cancer.
Key Characteristics of Albinism
- Reduced or absent pigmentation in the skin, hair, and eyes
- Increased risk of skin cancer and sunburn
- Vision problems, including photophobia, nystagmus, and reduced visual acuity
- Requires regular use of broad-spectrum sunscreen (SPF 30+), protective clothing, and sunglasses with UV protection
Associated Conditions
Albinism has been associated with other conditions, such as keratoconus, a progressive thinning of the cornea, which can lead to significant visual impairment 1. Additionally, some individuals with albinism may experience oculodigital stimulation, which can increase the risk of keratoconus.
Diagnosis and Treatment
Diagnosis of albinism is typically based on clinical presentation and genetic testing. While there is no cure for albinism, proper management allows most people with the condition to lead normal, healthy lives with appropriate accommodations for their visual needs and sun protection. Regular eye exams and monitoring for associated conditions, such as keratoconus, are essential for individuals with albinism. In some cases, individuals with albinism may also experience other systemic disorders, such as Chediak-Higashi syndrome, which requires aggressive treatment to prevent fatal complications 1.
From the Research
Definition and Characteristics of Albinism
- Albinism is a group of rare genetic disorders that cause the skin, hair, or eyes to have little to no color 2.
- It is characterized by a reduction or absence of melanin in the hair, skin, and/or eyes due to a deficiency of the enzyme tyrosinase 2.
- Albinism can be divided into two broad categories: oculocutaneous and ocular albinism, based on the involvement of hair, skin, and the eyes versus only the eyes, respectively 2.
Types and Prevalence of Albinism
- There are at least 18 genes identified as causative genes for albinism, with a population-specific mutational spectrum 3.
- Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis, with eight known subtypes 4.
- OCA affects people globally, but is most prevalent in African countries 4.
Clinical Manifestations of Albinism
- Common ocular findings include reduced visual acuity, refractive errors, iris transillumination, nystagmus, foveal hypoplasia, fundus hypopigmentation, and misrouting of optic nerve fibers at the chiasm 2.
- Individuals with oculocutaneous albinism lack UV protection and are prone to skin damage and skin cancers 4.
- Photophobia, nystagmus, and astigmatism are also common vision defects associated with albinism 5.
Management and Treatment of Albinism
- Refractive correction with spectacles can improve visual function in persons with albinism, despite overall subnormal acuity 6.
- Low-vision rehabilitation using multiple visual aids, such as special iris-tinted contact lenses and bi-level telemicroscopic apparatus devices, can improve the quality of life of individuals with albinism 5.
- Molecular genotyping of albinism is important for genetic and prenatal diagnosis, and is a prerequisite for the practice of precision medicine 3.